Wednesday, February 25, 2009

The Lonely Chromosome I: Cystic Fibrosis

An Autosomal Recessive Genetic Disorder: Cystic Fibrosis

Cystic fibrosis (CF) is known as what is called an autosomal recessive genetic disorder. With cystic fibrosis, each of your parents contributed to you what are known as CFTR protein genes that were mutated, meaning the genes are defective, which is why one acquires CF. The disease was first recognized during the 1930s. The name of the disease is derived from the frequent scarring of the pancreas associated with CF. CF has also been called Anderson's Syndrome in the past.

It is the most common hereditary disease in the United States. Also, the disease is almost entirely present in those who are white and of European decent. About 30,000 people in the U.S. have Cystic Fibrosis. Also, and for reasons unknown, men live longer than women with CF.

This is a multi-system disease that can be deadly, and most with CF never lived past 5 years of age until the 1950s. Today, about 40 percent of cystic fibrosis patients are adults. With proper dietary supplements, and antibiotics to treat lung infections, the lifespan of CF patients continues to increase.

Normally, CF is diagnosed when one is an infant- based on such things as low birth weight. Malnutrition is common due to the disease preventing the body from absorbing nutrients, and certain vitamins, such as vitamin D,E,A, or K. About 85 percent OF CF patients are deficient with such vitamins. In addition, genetic screening is now done on all neonates for up to 29 genetic disorders in most states in the U.S.

Aside from the CF patient experiencing often a dysfunctional pancreas, CF also causes lung infections and digestive problems as well. With cystic fibrosis, the glands in your exocrine system, glands that normally produce thin and slippery fluids for your internal organs instead produce thick mucus that essentially clogs your organs, such as your pancreas (mucovisidosis). This thick mucus also contributes to lung dysfunctions and infections as well.

There are pharmaceuticals that have yet to be approved designed to treat cystic fibrosis patients, which appear to be promising for those affected by this disease.
The CF patient may want to consider seeking out those doctors and hospitals who are specialists with cystic fibrosis for evaluative reasons and treatment reviews that will be best for them to address the complications of cystic fibrosis.

Dan Abshear

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